Rutten, Julie W.

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant

Rutten, J. W., Van Eijsden, B. J., Duering, M., Jouvent, E., Opherk, C., Pantoni, L., Federico, A., Dichgans, M., Markus, H. S., Chabriat, H., et al. (2019) · Genetics in Medicine

Cerebrovascular and genetic disordersGenetic Neurodegenerative Diseases

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Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

Hack, R. J., Gravesteijn, G., Cerfontaine, M. N., Santcroos, M. A., Gatti, L., Kopczak, A., Bersano, A., Duering, M., Rutten, J. W., & Lesnik Oberstein, S. A. J. (2023) · Brain

Cerebrovascular and genetic disordersGenetic Neurodegenerative Diseases

Cited by 60

Disease Severity Staging System for NOTCH3 -Associated Small Vessel Disease, Including CADASIL

Gravesteijn, G., Rutten, J. W., Cerfontaine, M. N., Hack, R. J., Liao, Y.-C., Jolly, A. A., Guey, S., Hsu, S.-L., Park, J.-Y., Yuan, Y., et al. (2025) · JAMA Neurology

Cerebrovascular and genetic disordersGenetic Neurodegenerative Diseases

Cited by 25